NDUFA2
Chr 5NADH:ubiquinone oxidoreductase subunit A2
Also known as: B8, CIB8, MC1DN13
The encoded protein is a subunit of NADH:ubiquinone oxidoreductase (complex I) in the mitochondrial electron transport chain and regulates complex I activity and assembly through redox processes. Biallelic mutations cause mitochondrial complex I deficiency, nuclear type 13, which presents as Leigh syndrome, an early-onset progressive neurodegenerative disorder. This condition follows autosomal recessive inheritance.
Moderate evidence — consider for supplementary testing
2 total gene-disease associations curated
Some data sources returned errors (1)
omim: Error: OMIM fetch failed: 429
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Tolerant to missense variation
ClinVar Variant Classifications
121 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 2 | 13 | 0 | 15 |
Likely Pathogenic | 0 | 0 | 0 | 0 | 0 |
VUS | 2 | 30 | 12 | 1 | 45 |
Likely Benign | 0 | 0 | 25 | 12 | 37 |
Benign | 0 | 0 | 12 | 2 | 14 |
Conflicting | — | 7 | |||
| Total | 2 | 32 | 62 | 15 | 118 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
NDUFA2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
External Resources
Links to major genomics databases and tools